Canonical Allele Identifier: CA7630510

Gene: CLN6

Linked Data

• dbSNP Id: rs776653535
• ExAC: 15:68501939 GC / G
• gnomAD v2: 15-68501939-GC-G
• gnomAD v4: 15-68209601-GC-G
• MyVariant Identifiers: chr15:g.68501940del (hg19) ; chr15:g.68209602del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209605del , CM000677.2:g.68209605del	GRCh38
NC_000015.9:g.68501943del , CM000677.1:g.68501943del	GRCh37
NC_000015.8:g.66288997del	NCBI36
NG_008764.2:g.52610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.665+35del MANE Select	ENSP00000249806.5:n.665+35del
ENST00000562767.2:c.84-11974del	ENSP00000456336.1:n.84-11974del
ENST00000563917.2:n.507+35del
ENST00000565471.6:c.206+35del	ENSP00000457384.1:n.206+35del
ENST00000635747.1:c.*568+35del	ENSP00000490627.1:n.*568+35del
ENST00000636212.1:c.*335+35del	ENSP00000489851.1:n.*335+35del
ENST00000636674.1:n.1767+35del
ENST00000636964.1:n.2193+35del
ENST00000637054.1:c.198+8934del	ENSP00000490807.1:n.198+8934del
ENST00000637329.1:c.634+35del
ENST00000637450.1:c.*319+35del	ENSP00000490204.1:n.*319+35del
ENST00000637494.1:c.377+35del	ENSP00000490057.1:n.377+35del
ENST00000637667.1:c.566+35del	ENSP00000489843.1:n.566+35del
ENST00000637823.1:c.490+35del
ENST00000637888.1:c.198+8934del	ENSP00000490546.1:n.198+8934del
ENST00000638076.1:c.*268+35del	ENSP00000490373.1:n.*268+35del
ENST00000638144.1:n.308+35del
ENST00000646164.1:c.38+8934del
ENST00000249806.9:c.665+35del	ENSP00000249806.5:n.665+35del
ENST00000538696.5:c.761+35del	ENSP00000445770.1:n.761+35del
ENST00000562767.1:c.84-11974del	ENSP00000456336.1:n.84-11974del
ENST00000564752.1:c.*49+35del	ENSP00000457822.1:n.*49+35del
ENST00000565471.5:c.206+35del	ENSP00000457384.1:n.206+35del
ENST00000566347.5:c.476+35del	ENSP00000457783.1:n.476+35del
ENST00000567060.5:c.*63+35del	ENSP00000454818.1:n.*63+35del
NM_017882.2:c.665+35del	NP_060352.1:n.665+35del
XR_931861.1:n.887+35del
NM_017882.3:c.665+35del MANE Select	NP_060352.1:n.665+35del